MEACHS
MCID: MCH011
MIFTS: 34

Meacham Syndrome (MEACHS)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome 57 58 73 29 13 6 39 71
Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome 58
Meacham Winn Culler Syndrome 71
Meacham-Winn-Culler Syndrome 58
Meachs 73

Characteristics:

Orphanet epidemiological data:

58
meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608978
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1837026 C2931752
Orphanet 58 ORPHA3097
MedGen 41 C1837026
UMLS 71 C1837026 C2931752

Summaries for Meacham Syndrome

UniProtKB/Swiss-Prot : 73 Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to nephrotic syndrome, type 4 and wilms tumor 1. An important gene associated with Meacham Syndrome is WT1 (WT1 Transcription Factor). Affiliated tissues include uterus, spleen and heart, and related phenotypes are congenital diaphragmatic hernia and aplasia/hypoplasia of the lungs

More information from OMIM: 608978

Related Diseases for Meacham Syndrome

Graphical network of the top 20 diseases related to Meacham Syndrome:



Diseases related to Meacham Syndrome

Symptoms & Phenotypes for Meacham Syndrome

Human phenotypes related to Meacham Syndrome:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
2 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
3 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
4 vaginal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000148
5 abnormal fallopian tube morphology 31 hallmark (90%) HP:0011027
6 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
7 hypoplastic left heart 58 31 frequent (33%) Frequent (79-30%) HP:0004383
8 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
9 hydrometrocolpos 58 31 frequent (33%) Frequent (79-30%) HP:0030010
10 pulmonary sequestration 58 31 frequent (33%) Frequent (79-30%) HP:0100632
11 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
12 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
13 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
14 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
15 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
16 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
17 abnormality of the spleen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001743
18 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
19 transposition of the great arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0001669
20 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
21 anomalous pulmonary venous return 58 31 occasional (7.5%) Occasional (29-5%) HP:0010772
22 crossed fused renal ectopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004736
23 abnormality of the vagina 58 Very frequent (99-80%)
24 abnormal lung lobation 58 Frequent (79-30%)
25 abnormality of the fallopian tube 58 Very frequent (99-80%)
26 conotruncal defect 58 Occasional (29-5%)

Clinical features from OMIM®:

608978 (Updated 05-Mar-2021)

Drugs & Therapeutics for Meacham Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

# Genetic test Affiliating Genes
1 Meacham Syndrome 29 WT1

Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

40
Uterus, Spleen, Heart, Kidney, Lung

Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

(show all 12)
# Title Authors PMID Year
1
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 61 6 57
17853480 2007
2
Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. 61 57
11822701 2002
3
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 6
9607189 1998
4
A clinical overview of WT1 gene mutations. 6
9090524 1997
5
Inherited WT1 mutation in Denys-Drash syndrome. 6
1327525 1992
6
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 6
1338906 1992
7
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 6
1302008 1992
8
Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. 57
1844355 1991
9
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 6
1655284 1991
10
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 6
6307071 1983
11
The clinical overlap between cardiac-urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac-urogenital syndrome. 61
32181572 2020
12
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 61
16932893 2006

Variations for Meacham Syndrome

ClinVar genetic disease variations for Meacham Syndrome:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
2 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) SNV Pathogenic 3487 rs121907900 11:32413566-32413566 11:32392020-32392020
3 WT1 NM_024426.6(WT1):c.1315C>T (p.Arg439Cys) SNV Pathogenic 3505 rs121907910 11:32414251-32414251 11:32392705-32392705
4 WT1 NM_024426.6(WT1):c.381C>G (p.Pro127=) SNV Uncertain significance 261711 rs771681406 11:32456526-32456526 11:32434980-32434980
5 WT1 NM_024426.6(WT1):c.*5T>C SNV Uncertain significance 877955 11:32410599-32410599 11:32389053-32389053
6 WT1 NM_024426.6(WT1):c.*629T>C SNV Uncertain significance 878010 11:32409975-32409975 11:32388429-32388429
7 WT1 NM_024426.6(WT1):c.124G>A (p.Gly42Ser) SNV Uncertain significance 543129 rs762288656 11:32456783-32456783 11:32435237-32435237
8 WT1 NM_024426.6(WT1):c.314C>G (p.Ala105Gly) SNV Uncertain significance 476699 rs948061247 11:32456593-32456593 11:32435047-32435047
9 WT1 NM_024426.6(WT1):c.620T>G (p.Leu207Arg) SNV Uncertain significance 842948 11:32456287-32456287 11:32434741-32434741
10 WT1 NM_024426.6(WT1):c.313G>T (p.Ala105Ser) SNV Uncertain significance 840419 11:32456594-32456594 11:32435048-32435048
11 WT1 NM_024426.6(WT1):c.-87C>T SNV Uncertain significance 877311 11:32456993-32456993 11:32435447-32435447
12 WT1 NM_024426.6(WT1):c.973G>A (p.Ala325Thr) SNV Uncertain significance 878161 11:32438079-32438079 11:32416533-32416533
13 WT1 NM_024426.6(WT1):c.298C>G (p.Pro100Ala) SNV Uncertain significance 877249 11:32456609-32456609 11:32435063-32435063
14 WT1 NM_024426.6(WT1):c.193G>A (p.Gly65Arg) SNV Uncertain significance 241478 rs374404615 11:32456714-32456714 11:32435168-32435168
15 WT1 NM_024426.6(WT1):c.*1066T>G SNV Uncertain significance 879412 11:32409538-32409538 11:32387992-32387992
16 WT1 NM_024426.6(WT1):c.813G>C (p.Pro271=) SNV Uncertain significance 879620 11:32449576-32449576 11:32428030-32428030
17 WT1 NM_024426.6(WT1):c.402G>A (p.Pro134=) SNV Uncertain significance 721377 rs777527675 11:32456505-32456505 11:32434959-32434959
18 WT1 NM_024426.6(WT1):c.*100A>G SNV Uncertain significance 879521 11:32410504-32410504 11:32388958-32388958
19 WT1 NM_024426.6(WT1):c.83G>A (p.Gly28Glu) SNV Uncertain significance 241487 rs751641518 11:32456824-32456824 11:32435278-32435278
20 WT1 NM_024426.6(WT1):c.*110C>T SNV Uncertain significance 304415 rs757474299 11:32410494-32410494 11:32388948-32388948
21 WT1 NM_024426.6(WT1):c.390A>G (p.Pro130=) SNV Uncertain significance 304424 rs886048228 11:32456517-32456517 11:32434971-32434971
22 WT1 NM_024426.6(WT1):c.-114T>A SNV Uncertain significance 304440 rs886048242 11:32457020-32457020 11:32435474-32435474
23 WT1 NM_024426.6(WT1):c.*768A>C SNV Uncertain significance 304392 rs886048215 11:32409836-32409836 11:32388290-32388290
24 WT1 NM_024426.6(WT1):c.-90T>C SNV Uncertain significance 304435 rs886048238 11:32456996-32456996 11:32435450-32435450
25 WT1 NM_024426.6(WT1):c.136G>T (p.Ala46Ser) SNV Uncertain significance 304430 rs886048233 11:32456771-32456771 11:32435225-32435225
26 WT1 NM_024426.6(WT1):c.*1167T>G SNV Uncertain significance 304373 rs771770230 11:32409437-32409437 11:32387891-32387891
27 WT1 NM_024426.6(WT1):c.*614A>C SNV Uncertain significance 304397 rs886048219 11:32409990-32409990 11:32388444-32388444
28 WT1 NM_024426.6(WT1):c.-82A>C SNV Uncertain significance 304433 rs886048236 11:32456988-32456988 11:32435442-32435442
29 WT1 NM_024426.6(WT1):c.*611C>T SNV Uncertain significance 304398 rs886048220 11:32409993-32409993 11:32388447-32388447
30 WT1 NM_024426.6(WT1):c.*534C>T SNV Uncertain significance 304402 rs868546165 11:32410070-32410070 11:32388524-32388524
31 WT1 NM_024426.6(WT1):c.*513C>T SNV Uncertain significance 304403 rs575602262 11:32410091-32410091 11:32388545-32388545
32 WT1 NM_024426.6(WT1):c.-106C>T SNV Uncertain significance 304438 rs867975105 11:32457012-32457012 11:32435466-32435466
33 WT1 NM_024426.6(WT1):c.*1021_*1022GT[18] Microsatellite Uncertain significance 304380 rs58549495 11:32409549-32409550 11:32388003-32388004
34 WT1 NM_024426.6(WT1):c.1017-15T>C SNV Uncertain significance 304420 rs374441355 11:32421605-32421605 11:32400059-32400059
35 WT1 NM_024426.6(WT1):c.-102C>A SNV Uncertain significance 304437 rs886048240 11:32457008-32457008 11:32435462-32435462
36 WT1 NM_024426.6(WT1):c.*366C>A SNV Uncertain significance 304406 rs886048223 11:32410238-32410238 11:32388692-32388692
37 WT1 NM_024426.6(WT1):c.*1021_*1022GT[15] Microsatellite Uncertain significance 304379 rs58549495 11:32409550-32409553 11:32388004-32388007
38 WT1 NM_024426.6(WT1):c.-31G>T SNV Uncertain significance 304431 rs886048234 11:32456937-32456937 11:32435391-32435391
39 WT1 NM_024426.6(WT1):c.*460C>A SNV Uncertain significance 304404 rs886048221 11:32410144-32410144 11:32388598-32388598
40 WT1 NM_024426.6(WT1):c.*1021_*1022GT[19] Microsatellite Uncertain significance 304377 rs58549495 11:32409549-32409550 11:32388003-32388004
41 WT1 NM_024426.6(WT1):c.-110C>T SNV Uncertain significance 304439 rs886048241 11:32457016-32457016 11:32435470-32435470
42 WT1 NM_024426.6(WT1):c.*393G>T SNV Uncertain significance 304405 rs886048222 11:32410211-32410211 11:32388665-32388665
43 WT1 NM_024426.6(WT1):c.-135G>A SNV Uncertain significance 304441 rs886048243 11:32457041-32457041 11:32435495-32435495
44 WT1 NM_024426.6(WT1):c.*741G>T SNV Uncertain significance 304393 rs886048216 11:32409863-32409863 11:32388317-32388317
45 WT1 NM_024426.6(WT1):c.285C>T (p.Gly95=) SNV Uncertain significance 304426 rs886048230 11:32456622-32456622 11:32435076-32435076
46 WT1 NM_024426.6(WT1):c.*785C>A SNV Uncertain significance 304391 rs886048214 11:32409819-32409819 11:32388273-32388273
47 WT1 NM_024426.6(WT1):c.*1058G>T SNV Uncertain significance 304376 rs886048211 11:32409546-32409546 11:32388000-32388000
48 WT1 NM_024426.6(WT1):c.247G>T (p.Ala83Ser) SNV Uncertain significance 304427 rs886048231 11:32456660-32456660 11:32435114-32435114
49 WT1 NM_024426.6(WT1):c.*666A>G SNV Uncertain significance 304396 rs374306749 11:32409938-32409938 11:32388392-32388392
50 WT1 NM_024426.6(WT1):c.*1225T>C SNV Uncertain significance 304371 rs886048210 11:32409379-32409379 11:32387833-32387833

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 WT1 p.Arg366Cys VAR_007745
2 WT1 p.Arg394Trp VAR_007750

Expression for Meacham Syndrome

Search GEO for disease gene expression data for Meacham Syndrome.

Pathways for Meacham Syndrome

GO Terms for Meacham Syndrome

Sources for Meacham Syndrome

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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
31 HPO
32 ICD10
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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